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NM_020812.4(DOCK6):c.5939+2T>C AND Adams-Oliver syndrome 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 5, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000239583.8

Allele description [Variation Report for NM_020812.4(DOCK6):c.5939+2T>C]

NM_020812.4(DOCK6):c.5939+2T>C

Gene:
DOCK6:dedicator of cytokinesis 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_020812.4(DOCK6):c.5939+2T>C
HGVS:
  • NC_000019.10:g.11200714A>G
  • NG_031953.1:g.66779T>C
  • NG_051186.1:g.1854T>C
  • NG_051186.2:g.2151T>C
  • NM_001367830.1:c.6044+2T>C
  • NM_020812.4:c.5939+2T>CMANE SELECT
  • NC_000019.9:g.11311390A>G
  • NM_020812.2:c.5939+2T>C
  • NM_020812.3:c.5939+2T>C
Nucleotide change:
IVS46DS, +2, T-C
Links:
OMIM: 614194.0006; dbSNP: rs201387914
NCBI 1000 Genomes Browser:
rs201387914
Molecular consequence:
  • NM_001367830.1:c.6044+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020812.4:c.5939+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Adams-Oliver syndrome 2 (AOS2)
Identifiers:
MONDO: MONDO:0013635; MedGen: C3280182; Orphanet: 974; OMIM: 614219

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000297836OMIM
no assertion criteria provided
Pathogenic
(Nov 2, 2023)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV002021733Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 5, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Erratum in: Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830.

PubMed [citation]
PMID:
25824905

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000297836.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.5939+2T-C transition (rs201387914) in intron 46 of the DOCK6 gene that was found in compound heterozygous state in a sister and brother with Adam-Oliver syndrome-2 (AOS2; 614219) by Sukalo et al. (2015), see 614194.0005.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV002021733.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024